30 results on '"Balikova, Irina"'
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2. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
3. Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism
4. Unilateral Melanoma-Associated Retinopathy Case Report
5. Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience
6. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
7. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
8. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
9. Analysis of KERA in four families with cornea plana identifies two novel mutations
10. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
11. The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
12. Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11
13. Expanding the clinical spectrum and management of traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH
14. Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16
15. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
16. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
17. Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men
18. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
19. Analysis of KERA in four families with cornea plana identifies two novel mutations
20. Analysis of <italic>KERA</italic> in four families with cornea plana identifies two novel mutations.
21. Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations inKIF11
22. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
23. Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
24. The causality of de novo copy number variants is overestimated
25. Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)
26. O3: Array CGH findings in a large series of 150 patients with idiopathic mental retardation and congenital anomalies: unexpected findings and implications for future routine diagnostic screening
27. O4: Detection of structural low-grade mosaicism by array CGH
28. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
29. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
30. Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration.
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